Mutagenetix > Incidental Mutation

Incidental Mutation 'R6114:Mfn1'

484997

Institutional Source

Beutler Lab

Gene Symbol

Mfn1

Ensembl Gene

ENSMUSG00000027668

Gene Name

mitofusin 1

Synonyms

6330416C07Rik, HR2, D3Ertd265e, 2310002F04Rik

MMRRC Submission

044263-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32529465-32579239 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32563836 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 106 (A106D)

Ref Sequence

ENSEMBL: ENSMUSP00000120960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091257] [ENSMUST00000118286] [ENSMUST00000151320]

AlphaFold

Q811U4

Predicted Effect

probably benign
Transcript: ENSMUST00000091257
AA Change: A458D

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000088801
Gene: ENSMUSG00000027668
AA Change: A458D

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	77	237	1.7e-6	PFAM
Pfam:Dynamin_N	78	238	3.9e-24	PFAM
low complexity region	315	326	N/A	INTRINSIC
low complexity region	394	405	N/A	INTRINSIC
Pfam:Fzo_mitofusin	575	735	1.2e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118286
AA Change: A458D

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113251
Gene: ENSMUSG00000027668
AA Change: A458D

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	77	237	1.2e-6	PFAM
Pfam:Dynamin_N	78	238	5e-24	PFAM
low complexity region	315	326	N/A	INTRINSIC
low complexity region	394	405	N/A	INTRINSIC
Pfam:Fzo_mitofusin	567	737	6.3e-86	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140328

Predicted Effect

probably damaging
Transcript: ENSMUST00000151320
AA Change: A106D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120960
Gene: ENSMUSG00000027668
AA Change: A106D

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC
Pfam:Fzo_mitofusin	215	319	1.2e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194384

Meta Mutation Damage Score

0.2834

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

94% (60/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die in mid gestation. Structural and functional abnormalities of mitochondria are reported. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	C	A	14: 68,571,803 (GRCm38)	V237L	probably benign	Het
Aff1	T	C	5: 103,842,297 (GRCm38)	S878P	probably damaging	Het
Ahcy	A	C	2: 155,062,159 (GRCm38)	L386R	probably damaging	Het
Ank2	T	C	3: 127,011,051 (GRCm38)	N607D	probably damaging	Het
Arid5b	T	C	10: 68,097,744 (GRCm38)	D776G	possibly damaging	Het
Art4	T	A	6: 136,857,213 (GRCm38)	T11S	unknown	Het
Blm	T	C	7: 80,513,487 (GRCm38)	T39A	probably damaging	Het
Cabin1	T	A	10: 75,747,971 (GRCm38)	M221L	probably benign	Het
Cacna1c	T	C	6: 118,596,140 (GRCm38)	T1675A	probably benign	Het
Cacnb2	A	T	2: 14,975,201 (GRCm38)	H285L	possibly damaging	Het
Cchcr1	A	G	17: 35,525,330 (GRCm38)	E339G	probably damaging	Het
Cd14	A	G	18: 36,725,953 (GRCm38)	W150R	probably damaging	Het
Cep162	A	G	9: 87,203,710 (GRCm38)	I1187T	probably benign	Het
Cntnap4	A	G	8: 112,841,753 (GRCm38)	H807R	probably damaging	Het
Copb1	T	A	7: 114,246,801 (GRCm38)	H178L	probably benign	Het
Cpxm2	A	G	7: 132,154,306 (GRCm38)	V103A	probably benign	Het
Egfr	A	G	11: 16,904,374 (GRCm38)	T849A	possibly damaging	Het
Endou	T	A	15: 97,713,876 (GRCm38)	K294*	probably null	Het
Fam208b	G	A	13: 3,590,081 (GRCm38)	T352M	probably damaging	Het
Gm884	T	A	11: 103,617,791 (GRCm38)		probably benign	Het
Hoxd9	A	G	2: 74,699,365 (GRCm38)	N322D	probably damaging	Het
Hsph1	C	A	5: 149,627,387 (GRCm38)	V416L	possibly damaging	Het
Igkv4-78	T	A	6: 69,059,759 (GRCm38)	T97S	possibly damaging	Het
Itga10	G	T	3: 96,649,035 (GRCm38)	C162F	probably damaging	Het
Lmod2	A	G	6: 24,603,692 (GRCm38)	E222G	probably damaging	Het
Lpar5	A	G	6: 125,081,676 (GRCm38)	N120S	probably damaging	Het
Lrrk2	A	G	15: 91,747,826 (GRCm38)	I1318V	probably benign	Het
Lst1	T	C	17: 35,188,360 (GRCm38)	T11A	possibly damaging	Het
Ms4a12	G	T	19: 11,215,290 (GRCm38)	N227K	probably benign	Het
Nr1h4	T	A	10: 89,478,816 (GRCm38)	N273Y	possibly damaging	Het
Nrd1	A	T	4: 109,044,585 (GRCm38)	K617M	probably damaging	Het
Olfr355	A	T	2: 36,927,689 (GRCm38)	C142S	possibly damaging	Het
Olfr516	A	T	7: 108,845,386 (GRCm38)	M208K	possibly damaging	Het
Olfr771	T	A	10: 129,160,333 (GRCm38)	H217L	probably benign	Het
Pcdhgc3	C	G	18: 37,807,872 (GRCm38)	T442R	probably benign	Het
Pcnx2	T	C	8: 125,773,947 (GRCm38)	N1468S	probably damaging	Het
Pde2a	A	T	7: 101,511,112 (GRCm38)		probably null	Het
Pitx2	C	G	3: 129,204,413 (GRCm38)		probably null	Het
Reck	T	A	4: 43,922,895 (GRCm38)	I390N	probably damaging	Het
Rora	A	G	9: 69,371,323 (GRCm38)	N254S	probably benign	Het
Samd4b	A	G	7: 28,522,792 (GRCm38)		probably null	Het
Scn8a	A	G	15: 101,040,596 (GRCm38)	T1949A	probably damaging	Het
Slc22a15	A	T	3: 101,860,852 (GRCm38)	Y346*	probably null	Het
Slc24a5	A	G	2: 125,083,092 (GRCm38)	T218A	probably benign	Het
Slc38a10	G	A	11: 120,129,312 (GRCm38)	Q305*	probably null	Het
Slc45a4	G	A	15: 73,605,604 (GRCm38)	P28S	probably damaging	Het
Smyd5	A	T	6: 85,440,262 (GRCm38)		probably benign	Het
Sox8	T	C	17: 25,567,520 (GRCm38)	D403G	probably damaging	Het
Stx7	A	G	10: 24,184,985 (GRCm38)		probably null	Het
Svil	T	C	18: 5,108,639 (GRCm38)	S1522P	probably damaging	Het
Sycp2	G	C	2: 178,348,245 (GRCm38)	R1403G	probably benign	Het
Tcf25	A	T	8: 123,384,375 (GRCm38)	K192M	probably damaging	Het
Tecpr1	C	T	5: 144,204,640 (GRCm38)	G804S	possibly damaging	Het
Teddm1a	C	G	1: 153,891,868 (GRCm38)	S26C	probably damaging	Het
Usp13	C	T	3: 32,854,669 (GRCm38)	P155S	probably damaging	Het
Usp17lb	T	A	7: 104,840,364 (GRCm38)	D451V	possibly damaging	Het
Vmn1r173	A	G	7: 23,702,829 (GRCm38)	N163S	possibly damaging	Het
Vmn2r103	G	T	17: 19,812,325 (GRCm38)	C787F	probably damaging	Het
Vmn2r106	G	A	17: 20,268,376 (GRCm38)	P587L	probably benign	Het
Wdr24	C	T	17: 25,824,605 (GRCm38)	H134Y	probably benign	Het
Zbtb40	T	A	4: 136,988,691 (GRCm38)	I988F	probably damaging	Het
Zfp536	A	T	7: 37,479,736 (GRCm38)	I84N	probably damaging	Het
Zfp651	T	A	9: 121,765,595 (GRCm38)	F540Y	probably damaging	Het

Other mutations in Mfn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:Mfn1	APN	3	32,542,836 (GRCm38)	missense	probably damaging	1.00
IGL01687:Mfn1	APN	3	32,563,366 (GRCm38)	splice site	probably benign
IGL02743:Mfn1	APN	3	32,574,290 (GRCm38)	missense	probably benign	0.10
PIT4520001:Mfn1	UTSW	3	32,561,546 (GRCm38)	missense	probably benign
R0039:Mfn1	UTSW	3	32,538,267 (GRCm38)	splice site	probably benign
R0571:Mfn1	UTSW	3	32,561,472 (GRCm38)	missense	probably damaging	1.00
R0920:Mfn1	UTSW	3	32,534,236 (GRCm38)	critical splice acceptor site	probably null
R1661:Mfn1	UTSW	3	32,534,322 (GRCm38)	missense	probably benign	0.00
R1665:Mfn1	UTSW	3	32,534,322 (GRCm38)	missense	probably benign	0.00
R2153:Mfn1	UTSW	3	32,542,826 (GRCm38)	missense	probably damaging	1.00
R2156:Mfn1	UTSW	3	32,534,251 (GRCm38)	missense	possibly damaging	0.60
R2260:Mfn1	UTSW	3	32,563,426 (GRCm38)	nonsense	probably null
R2420:Mfn1	UTSW	3	32,569,515 (GRCm38)	missense	probably benign	0.21
R3864:Mfn1	UTSW	3	32,563,092 (GRCm38)	missense	possibly damaging	0.89
R4079:Mfn1	UTSW	3	32,542,849 (GRCm38)	missense	probably damaging	1.00
R4162:Mfn1	UTSW	3	32,562,998 (GRCm38)	splice site	probably benign
R4897:Mfn1	UTSW	3	32,546,562 (GRCm38)	intron	probably benign
R5115:Mfn1	UTSW	3	32,564,307 (GRCm38)	critical splice donor site	probably null
R5276:Mfn1	UTSW	3	32,564,205 (GRCm38)	missense	probably benign	0.39
R5590:Mfn1	UTSW	3	32,563,847 (GRCm38)	missense	probably benign	0.00
R5629:Mfn1	UTSW	3	32,561,510 (GRCm38)	missense	possibly damaging	0.83
R6110:Mfn1	UTSW	3	32,563,024 (GRCm38)	missense	probably benign	0.01
R6560:Mfn1	UTSW	3	32,569,516 (GRCm38)	missense	probably damaging	0.96
R6891:Mfn1	UTSW	3	32,577,103 (GRCm38)	missense	possibly damaging	0.49
R7053:Mfn1	UTSW	3	32,531,965 (GRCm38)	missense	probably benign	0.00
R7071:Mfn1	UTSW	3	32,568,395 (GRCm38)	missense	probably benign	0.00
R7182:Mfn1	UTSW	3	32,564,220 (GRCm38)	missense	probably damaging	1.00
R8190:Mfn1	UTSW	3	32,568,389 (GRCm38)	missense	possibly damaging	0.88
R8998:Mfn1	UTSW	3	32,569,534 (GRCm38)	missense	possibly damaging	0.79
R8999:Mfn1	UTSW	3	32,569,534 (GRCm38)	missense	possibly damaging	0.79
R9255:Mfn1	UTSW	3	32,544,138 (GRCm38)	missense	possibly damaging	0.91
R9619:Mfn1	UTSW	3	32,574,329 (GRCm38)	missense	possibly damaging	0.50
Z1177:Mfn1	UTSW	3	32,564,291 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCACACTGTCTGACATGTG -3'
(R):5'- TTGCCTTCCAAACAATGCAC -3'

Sequencing Primer
(F):5'- GCACACTGTCTGACATGTGACATTG -3'
(R):5'- CAATGCACCCAAATTAAAATAACCC -3'

Posted On

2017-08-16